Experimental Factor Ontology

Last uploaded: November 18, 2024

Preferred Name	Hyperphenylalaninemia
Synonyms	Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Hyperphenylalaninemia due to BH4 deficiency Non-phenylketonuric hyperphenylalaninemia
ID	http://www.orpha.net/ORDO/Orphanet_238583
database_cross_reference	ICD10:E70.1 MedDRA:10084114 OMIM:261640 OMIM:264070 OMIM:261630 OMIM:233910 UMLS:C0751436
has_exact_synonym	Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Hyperphenylalaninemia due to BH4 deficiency Non-phenylketonuric hyperphenylalaninemia
label	Hyperphenylalaninemia
preferred label	Hyperphenylalaninemia
prefLabel	Hyperphenylalaninemia
subClassOf	http://www.orpha.net/ORDO/Orphanet_79169 http://www.orpha.net/ORDO/Orphanet_71859

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_238583	CCONT	SAME_URI
http://www.orpha.net/ORDO/Orphanet_238583	ORDO	SAME_URI
http://purl.bioontology.org/ontology/CSP/1849-1177	CRISP	LOOM
http://onstr.googlecode.com/svn/tags/currentRelease/2014-09-03/ONSTR.owl#ONSTR_7546388	ONSTR	LOOM
http://purl.bioontology.org/ontology/LNC/LA21167-4	LOINC	LOOM
http://www.orpha.net/ORDO/Orphanet_238583	CCONT	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10084114	MEDDRA	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00003768	PMAPP-PMO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/68528007	SNOMEDCT	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0751435	OCHV	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_19279	HRDO	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU010142	OMIM	LOOM
rgo:29501	GAMUTS	LOOM
http://identifiers.org/omim/261600	REXO	LOOM
http://identifiers.org/omim/261600	GEXO	LOOM
http://identifiers.org/omim/261600	RETO	LOOM
http://purl.obolibrary.org/obo/HP_0004923	HP	LOOM
http://purl.obolibrary.org/obo/HP_0004923	UPHENO	LOOM
http://purl.obolibrary.org/obo/HP_0004923	OBA	LOOM
http://purl.obolibrary.org/obo/OMIM_261600	CCO	LOOM
http://purl.jp/bio/4/id/200906086179712502	IOBC	LOOM